ClinVar Miner

List of variants in gene SETD2 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.3465T>C (p.Asn1155=) rs6767907 0.65555
NM_014159.7(SETD2):c.5885C>T (p.Pro1962Leu) rs4082155 0.49386
NM_014159.7(SETD2):c.2704G>C (p.Glu902Gln) rs58906143 0.01669
NM_014159.7(SETD2):c.4872T>A (p.Ser1624=) rs75763513 0.01071
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=) rs80241480 0.00871
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_014159.7(SETD2):c.557C>T (p.Pro186Leu) rs78759480 0.00723
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00191
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr) rs115788094 0.00034
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_014159.7(SETD2):c.1343G>A (p.Arg448Gln) rs564020755 0.00006
NM_014159.7(SETD2):c.986G>A (p.Arg329Gln) rs540015912 0.00005
NM_014159.7(SETD2):c.3136A>G (p.Asn1046Asp) rs199890800 0.00002
NM_014159.7(SETD2):c.1603A>G (p.Asn535Asp) rs778603109 0.00001
NM_014159.7(SETD2):c.1688T>C (p.Ile563Thr) rs202178837 0.00001
NM_014159.7(SETD2):c.7444A>G (p.Ile2482Val) rs761150552 0.00001
NM_014159.7(SETD2):c.539C>T (p.Ser180Leu) rs1559750451

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